farber lipogranulomatosis

Preferred Label : farber lipogranulomatosis;

MeSH definition : A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous deposits in tissues. It results from the accumulation of CERAMIDES in various tissues due to an inherited deficiency of ACID CERAMIDASE.;

MeSH synonym : acid ceramidase deficiencies; lipogranulomatosis, farber; acid ceramidase deficiency; ceramidase deficiency, acid; deficiency, acid ceramidase; farber disease; ceramidase deficiency; ceramidase deficiencies; deficiencies, ceramidase; deficiency, ceramidase; farber's disease; disease, farber's; diseases, farber's; farber's diseases; farbers disease; N-Laurylsphingosine deacylase deficiency; deficiencies, N-Laurylsphingosine deacylase; deficiency, N-Laurylsphingosine deacylase; N laurylsphingosine deacylase deficiency; N-Laurylsphingosine deacylase deficiencies;

False MeSH synonym : farber disease;

Wikipedia link : https://en.wikipedia.org/wiki/Farber disease;

Details

Origin ID

D055577;

UMLS CUI

C0268255;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Farber disease [MedDRA LLT]
Currated CISMeF NLP mapping
- Farber Lipogranulomatosis [NCIt concept]
- Farber disease [PASCAL descriptor]
- Farber disease [ICD-11 More detail]
- Farber disease [ORDO Disease]
- Farber lipogranulomatosis [DO Concept]
- Farber lipogranulomatosis [OMIM Phenotype]
- Farber's lipogranulomatosis (disorder) [SNOMED CT concept]
- ceramidase deficiency [Disease (Nov.)]
- farber's lipogranulomatosis [SNOMED Notion]
DO Cross reference
- Farber lipogranulomatosis [DO Concept]
Indexing information
- ASAH1 protein, human [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Genetic subcutaneous tissue disorder [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Subcutaneous tissue disease [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
MeSH Descriptor(s) used for indexing
- acid ceramidase [MeSH Descriptor]
ORDO relation(s)
- Farber disease [ORDO Disease]
Record concept(s)
- farber lipogranulomatosis [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Farber Lipogranulomatosis [NCIt concept]
- Farber disease [ORDO Disease]
- Farber disease [PASCAL descriptor]
- Farber disease [ICD-11 More detail]
- Farber disease [MedDRA LLT]
- Farber lipogranulomatosis [OMIM Phenotype]
- Farber lipogranulomatosis [DO Concept]
- Farber's lipogranulomatosis (disorder) [SNOMED CT concept]
- ceramidase deficiency [Disease (Nov.)]
- farber's lipogranulomatosis [SNOMED Notion]

Keyword's position in hierarchy(ies) :

Main resources

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